Doris Buffett’s Challenge Grant to FRAXA: Over $1.5 Million for Research!

Doris Buffett’s Challenge Grant to FRAXA: Over $1.5 Million for Research!
FRAXA Families and Friends Tripled the Goal! In the Spring of 2007, Doris Buffett, president of the Sunshine Lady Foundation, challenged FRAXA to raise $500,000 in new funds by November 1 which she’d match. On August 28th, FRAXA met the challenge! Doris told us to keep going. Until November 1, the sky would be the limit. The grand total of new donations received was $1,424,562, with an additional $98,755 in pledges payable by March 1st, for a total of $1,523,317! Together with Ms. Buffett’s initial $500,000 gift, FRAXA Doris Buffettreceived over $3.5 million in new money — all for research aimed at curing or treating Fragile X. This means new clinical trials, new research, new determination to reach for a cure. Thanks so very much to all of you who helped make this happen. More than 2600 people donated toward the Challenge – it is a true grass-roots community success.Read more

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

Randy Carpenter, MD Principal Investigator with Mark Bear, PhD, MIT Co-Investigator (2007)   Clinical development of mGluR5 Antagonists to Treat Fragile X Syndrome and Autism Seaside Therapeutics received a major grant from the NIH, with additional funding from FRAXA and Cure Autism Now (CAN) to develop STX107, a selective mGluR5 antagonist, as a treatment for fragile X. Unfortunately Seaside has since discontinued development of STX107.

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Role of Experience in Regulating Levels of the Fragile X Protein

Role of Experience in Regulating Levels of the Fragile X Protein

FRAXA Research Grant to Kenneth J. Mack, MD, PhD — Mayo Clinic with Peter K. Todd, MD, PhD, Postdoctoral Fellow   FRAXA Awards: $29,000 in 2001 $20,000 in 2000 Final Report on Dr. Mack’s Project While a professor at University of Wisconsin-Madison, Dr. Mack investigated whether and how FMRP levels are regulated in response to neuronal stimulation in vivo (in live animals). He looked at the effects of seizures and of experience in his experiments. Dr. Mack and colleagues published their findings in the Proceedings of the National Academy of Sciences: The fragile X mental retardation protein is required for type-I metabotropic glutamate receptor-dependent translation of PSD-95 Peter K. Todd, Kenneth J. Mack, and James S. Malter PNAS | November 25, 2003 | vol. 100 | no. 24

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Studies on FMR1 Gene Delivery Using Herpes Simplex Virus Vectors

Studies on FMR1 Gene Delivery Using Herpes Simplex Virus Vectors

With $89,000 from FRAXA Research Foundation over 2001-2005, Dr. David Bloom investigated gene therapy for fragile X. The Bloom lab specializes in the development of gene therapy techniques, and they have succeeded in transferring the fragile X gene (fmr1) into the brains of live mice, using viral vectors. They studied ways to enhance this process, with the ultimate goal of gene therapy for people with fragile X.

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Studies of glutamate receptor trafficking

Studies of glutamate receptor trafficking

Robert Malinow, PhD, Principal Investigator Julius Zhu, PhD, FRAXA Postdoctoral Fellow Cold Spring Harbor Laboratory   FRAXA Award: $35,000 in 2001 While he was a postdoctoral fellow in Dr. Malinow’s lab, Dr. Julius Zhu carried out experiments designed to define the set of proteins which are affected in fragile X syndrome and understand how they function together. In 2002, Dr. Zhu started his own lab at the University of Virginia where he is continuing his Fragile X work with new funding from FRAXA. More information.

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Prepulse inhibition in Fragile X

Prepulse inhibition in Fragile X

Alcino Silva, PhD — UCLA with Paul Frankland, PhD, FRAXA Postdoctoral Fellow University of California Los Angelos FRAXA Award: $27,000 in 1999 by Paul Frankland, 8/1/2001 Fragile X syndrome is associated with mild to severe learning disabilities, as well as attentional problems. In 1991, scientists discovered the gene (called FMR1) that causes Fragile X. In people with Fragile X, a defect in the FMR1 shuts the gene down. Like a defective factory, the FMR1 gene cannot manufacture the protein it normally makes. The gene is on strike! The discovery of the Fragile X gene lead to the development of the first Fragile X mouse model. This mutant mouse has been engineered to lack the FMR1 gene, and so, just as in people with Fragile X, no Fragile X protein is manufactured. Because the Fragile X mouse has been found to have learning difficulties, it provides a perfect test ground for

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